ClinVar Miner

List of variants in gene combination LOC126860792, PMPCA reported as pathogenic for Autosomal recessive spinocerebellar ataxia 2

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)	rs573267388	0.00010
NM_015160.3(PMPCA):c.766G>A (p.Val256Met)	rs746549806	0.00001

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